Skip to main content
Premium Trial:

Request an Annual Quote

Researchers Develop Polygenic Risk Scores for Dozens of Disease-Related Exposures

For a paper in the American Journal of Human Genetics, researchers from the University of Michigan present exposure polygenic risk scores (ExPRSs) developed to genetically estimate lifestyle factors and environmental exposures known for influencing disease risk. Using four polygenic risk score methods, along with summary statistic data from past genome-wide association studies related to 28 such exposures, the team analyzed data from the Michigan Genomics Initiative and UK Biobank datasets, coming up with proposed ExPRSs for all but one of the exposures considered. Along with efforts to apply such scores to phenome-wide association and common disease prediction analyses, the authors went on to compile the new ExPRSs in an online "ExPRSweb" collection. "In absence of high-quality exposure data on many individuals, ExPRSs can serve as surrogates if one has genotype data on a larger and more representative sample," they explain. "Our repository ExPRSweb unlocks access to over 300 ExPRSs for 27 different exposures and facilitates scientific collaboration to strengthen their future application.

The Scan

Quality Improvement Study Compares Molecular Tumor Boards, Central Consensus Recommendations

With 50 simulated cancer cases, researchers in JAMA Network Open compared molecular tumor board recommendations with central consensus plans at a dozen centers in Japan.

Lupus Heterogeneity Highlighted With Single-Cell Transcriptomes

Using single-cell RNA sequencing, researchers in Nature Communications tracked down immune and non-immune cell differences between discoid lupus erythematosus and systemic lupus erythematosus.

Rare Disease Clues Gleaned From Mobile Element Insertions in Exome Sequences

With an approach called MELT, researchers in the European Journal of Human Genetics uncovered mobile element insertions in exomes from 3,232 individuals with or without developmental or neurological abnormalities.

Team Tracks Down Potential Blood Plasma Markers Linked to Heart Failure in Atrial Fibrillation Patients

Researchers in BMC Genomics found 10 differentially expressed proteins or metabolites that marked atrial fibrillation with heart failure cases.